Genetic Testing for Retinitis Pigmentosa

Around 30% of Retinitis Pigmentosa (RP) cases are inherited in an autosomal dominant pattern, while the rest can be inherited in recessive, X-linked, and even mitochondrial patterns.1 It is estimated to affect about 1 in 3,000 to 1 in 4,000 people.2 RP involves a breakdown and loss of retina cells, which eventually leads to loss of vision. Early symptoms of RP include night blindness, followed by loss of peripheral vision.
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About Retinitis Pigmentosa Panel

Who should consider testing

  • People with a family history of retinitis pigmentosa
  • People with a clinical suspicion of retinitis pigmentosa to facilitate diagnosis of the disease
  • People with a clinical diagnosis of retinitis pigmentosa to confirm the disease-causing genes

What can you learn from the test?

The test helps differentiate retinitis pigmentosa (RP) and RP-related disorders. By finding out the disease-causing gene and inheritance pattern, it can help understand the disease prognosis and treatment strategy.

Screening of


eye disease genes in one test
Associated with


Eye disorders
Accurate diagnosis in just

6 weeks

Get Full Gene List

Fast and accurate confirmatory diagnosis of disease

By integrating genetic and clinical information, our tests speed up medical diagnosis of inherited disorders.

Predicting disease prognosis

Disease severity is partially related to the inheritance pattern. X-linked cases are the severe form of Retinitis Pigmentosa. 

Plan for your life and your family

You may then identify carriers in your family and make decisions about family planning.

The process


Order and receive a saliva collection kit.


Register the sample collection tube barcode online, then take a sample.


Mail the kit back to Codex’s laboratory for analysis.


Results are provided to you securely on the codex website within six weeks from receipt of sample.

A high accuracy standard

Steps Accuracy
DNA sequencing 99.9%
Variant calling – SNP >99%*#
Variant calling – Indel >99%*#

* Passed GenQA/UK NEQAS external quality assurance

# The interpretation of sequencing variants is based on the current understanding of the variants at the time it was observed, which may change over time as more information about the genes becomes available. Not all variants are represented in this report.


  1. Daiger SP, Bowne SJ, Sullivan LS. Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa. Cold Spring Harb Perspect Med. 2014.
  2. NORD – National Organization for Rare Disorders. Rare Disease Database. Retinitis Pigmentosa.

Contact our Customer Service to obtain a full gene list

Address: Unit 220, 2/F, Building 16W, No. 16 Science Park West Avenue, Hong Kong Science Park, Shatin, N.T., Hong Kong
Tel: 3008 2560 / 9837 1345 (whatsapp)

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